Oreana neonatal screening is a new genetic test for screening newborns, infants or children for treatable or manageable conditions. The disorders screened by Oreana have symptoms that may not be apparent at birth. However, symptoms for these conditions can manifest quickly, pose a critical threat to the health or future development of the infant and require urgent treatment.
With Oreana, early detection of life-altering conditions that could have a simple yet meaningful clinical management is possible, and allows for early, pro-active interventions that will benefit the infant’s health and quality of life.
WHAT DOES Oreana NEONATAL SCREENING TEST FOR?
Oreana screens for 106 genetic conditions that meet several of the following criteria:
Can be identified early, before the onset of detrimental, often irreversible symptoms
Can cause affected infants to degenerate very quickly without appropriate management
Are treatable, or could be manageable via tailored diet, supplements or medications
Have high incidence in the population
Have moderate to severe clinical phenotype, with variable expression of clinical symptoms
Early interventions could halt the onset of symptoms or limit their effect
Prompt identification and timely treatmentm of affected infants could prevent or minimize serious, life-long consequences such as:
- Developmental delay
- Cognitive impairment
- Physical disability
- Mental delay
- Liver disease
- Blindness
- Neurological degeneration
- Malnutrition
- Premature death
Oreana includes Autosomal Recessive, Autosomal Dominant and X-Linked genetic conditions of metabolic, endocrine and haemoglobin nature, as well as hearing loss disorders, among others. For a complete list of the 106 diseases and 142 genes tested by Oreana, please visit www.nipd.com/oreanapanel.
Oreana tests for most conditions included in the 'Recommended Uniform Screening Panel' which is a list of disorders selected based upon the American College of Medical Genetics (ACMG) recommendations for newborn screening. Additional disorders were added to Oreana that were either part of the differential diagnosis or met the criteria listed above.
A MANAGEABLE CONDITION IS IDENTIFIED IN ABOUT 1 in 300 NEWBORNS*
Oreana neonatal screening can identify infants who are affected by a manageable or treatable disease soon after birth, before the onset of symptoms. The disorders tested could have detrimental effects on normal development, even lead to death. Most of these diseases have a vast array of symptoms once they manifest, making diagnosis lengthy and complicated. With timely detection, Oreana gives you the opportunity to take informed and early decisions on the best clinical management for your patient.
Oreana can also be used to identify genetic diseases in newborns, infants or children who present with a variety of clinical symptoms.
*Data collected from Centers for Disease Control and Prevention (2012); CDC Grand Rounds: Newborn screening and improved outcomes, and is based on screening of 29 diseases included in the core conditions of the Recommended Uniform Screening Panel.
WHO IS Oreana NEONATAL SCREENING FOR?
Asymptomatic newborns and infants for early detection
Newborns, infants or young children presenting with a clinical phenotype, for identification of the disease-causing variant
Oreana can benefit all newborns and infants, irrespective of their family’s genetic history. The conditions tested by Oreana may be inherited from carrier parents who are unaware of their genetic status to their children, they may have a hereditary component or no previous disease manifestation in the family history. Oreana neonatal screening can help in identifying and treating the affected child early, but also with providing the family with useful information on their genetic background and future family planning.
WHY CHOOSE Oreana NEONATAL SCREENING?
- Results are reported quickly, to accommodate for timely and effective interventions
- Complements national newborn screening programs
- Testing for clinically actionable and highly penetrant mutations
- Superior targeted genomic analysis, targeting all coding sequences of the tested genes
- Expandable panel of disorders
- High precision and accuracy
- High sensitivity and specificity
- Non-invasive, painless and safe for the infant
WHY RECOMMEND Oreana IN ADDITION TO NEONATAL SCREENING?
National newborn screening programs offer great advantages for infants, their families and national health systems. However, because they are subjected to each country's regulations, healthcare system and available funds, implementation of changes, such as use of more advanced technology or addition of clinically important diseases, can take time. As a result, the number of conditions tested is vastly different throughout Europe and the world; some countries perform newborn screening ranging from only 2 disorders to over 35.
With Oreana neonatal screening, 106 conditions that are treatable or manageable can be detected before appearance of clinical signs in asymptomatic newborns. With early interventions, irreversible damages to the infant can be limited or prevented, benefiting their quality of life. Additionally, accurate identification of disease-causing variants in symptomatic newborns can signify the start of beneficial, therapeutic treatment.
* Data collected from Centers for Disease Control and Prevention (2012); CDC Grand Rounds: Newborn screening and improved outcomes, and is based on screening of 29 diseases included in the core conditions of the Recommended Uniform Screening Panel.
WHAT ARE THE BENEFITS OF EARLY DETECTION?
- Prevent the onset of symptoms
- Minimize the severity of symptoms
- Limit irreparable health damage
- Avoid a late and lengthy diagnosis
- Start early interventions and clinical management
- Advice on available experimental therapies or clinical trials, where appropriate
TECHNOLOGICAL ADVANTAGES
Oreana uses a targeted genomic analysis and a robust, validated multiengine analysis platform to screen for clinically actionable, highly penetrant gene mutations with high sensitivity and specificity.
TARGETED TECHNOLOGY
Oreana neonatal screening is based on a novel, target capture enrichment technology that has been thoroughly validated for its accuracy and precision.
FULL COVERAGE
Oreana screens for all coding regions on the genes tested, examining single nucleotide variants, small insertions and deletions and copy number variants.
NOVEL BIOINFORMATICS
Innovative bioinformatics pipelines analyze the sequencing data produced from each sample, increasing the sensitivity and specificity of Oreana neonatal screening.
WHEN IS THE OPTIMAL TIME TO PERFORM Oreana?
Oreana neonatal screening can be performed anytime after the first 24 hours of birth, up to early childhood. For many of the disorders tested by Oreana, the age of diagnosis can determine the prognosis and severity of symptoms. Since the introduction of newborn screening programs, earlier detection and starting treatment as soon as possible have improved the life expectancy and quality of life of affected infants.
WHAT WILL THE REPORT TELL ME?
Positive or negative results on mutations detected
Thorough interpretation and significance of any positive mutations detected
Variants of Unknown Significance (VUS) are not reported. Inconclusive results may occasionally be issued.
WHAT CAN I DO AFTER Oreana?
Through Oreana neonatal screening, you can benefit the affected infant’s health as well as the whole family. In case of a positive result, you can:
-
Start proactive treatment as soon as possible, to halt the natural progression of the disease
-
Look for the most applicable therapy
Refer the affected infant to specialists
Recommend carrier screening to family members, depending on the disease and the genetic status
Recommend genetic counselling to the family
HOW TO ADMINISTER Oreana NEONATAL SCREENING?
-
RECOMMEND Oreana TO THE INFANT’S PARENTS
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COLLECT A CHEEK SWAB FROM THE INFANT
SEND THE SAMPLE TO NIPD Genetics
THE SAMPLE WILL BE ANALYZED IN OUR LABORATORY
RESULTS WILL BE SENT TO YOU WITHIN 2-3 WEEKS FROM SAMPLE RECEIPT TO THE LABORATORY
NIPD Genetics - Privacy Policy
General Statement
This Privacy Policy applies only to www.nipd.com and its subdomains (hereafter collectively referred to as “Sites") that link to this policy. NIPD Genetics Sites are owned by NIPD Genetics Public Company Ltd and are operated by NIPD Genetics Public Company Ltd and on occasion by a third-party that is responsible for the technical maintenance of the Sites.
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You may contact NIPD Genetics Public Company Ltd at
NIPD Genetics Public Company Ltd
Neas Engomis 31
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NIPD Genetics Data Protection Officer can be reached at dpo@nipd.com
This Privacy Policy applies only to the Sites as defined above and which are operated by NIPD Genetics. The NIPD Genetics Privacy Policy seeks to inform the users of its Sites of the following:
- Type of personal information NIPD Genetics may collect through its Sites
- The ways by which NIPD Genetics collects, uses or shares such information
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- Your rights pertaining to your personal information, as explained in this Privacy Policy
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This page informs you of our policies regarding the collection, use, and disclosure of personal data when you use our Sites and the choices you have associated with that data.
We use your data to provide and improve the Sites. By using the Sites, you agree to the collection and use of information in accordance with this policy. Unless otherwise defined in this Privacy Policy, terms used in this Privacy Policy have the same meanings as in our Terms and Conditions, accessible from www.nipd.com
Type of personal information NIPD Genetics may collect through its Sites
Information Collection And Use
We collect several different types of information for various purposes to provide and improve our Sites and services to you.
Personal Data
While using NIPD Genetics Sites, you may be asked to provide NIPD Genetics certain personally identifiable information that can be used to contact or identify you ("Personal Information"). Personal Information that might be used to identify you includes, but is not limited to:
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Your information, including personal data, may be transferred to — and maintained on — computers located outside of your province, country or other governmental jurisdiction where the data protection laws may differ than those from your jurisdiction.
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Changes to This Privacy Policy
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